Submissions for variant NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)

gnomAD frequency: 0.00040  dbSNP: rs138418494

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000653233	SCV000775109	benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000999201	SCV001155710	uncertain significance	not provided	2016-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169415	SCV001332110	uncertain significance	Congenital myasthenic syndrome 9	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics	RCV000999201	SCV001475213	uncertain significance	not provided	2019-12-13	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000999201	SCV003817081	uncertain significance	not provided	2023-05-10	criteria provided, single submitter	clinical testing